autism spectrum disorder

A novel frameshift mutation in the SYNGAP1 gene has been identified as a cause of autosomal dominant mental retardation type 5 and autism spectrum disorder. This finding emphasizes the critical role of SYNGAP1 in neurodevelopment and highlights the need for...

A novel frameshift mutation in the SYNGAP1 gene led to a complex presentation of autosomal dominant mental retardation type 5 and autism spectrum disorder. This case highlights the critical role of genetic testing in unraveling rare neurodevelopmental disor...